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Article

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.

Acta dermato-venereologica - 4 Jan 2017

Gostyńska Katarzyna B, Bremer Jeroen, van Dijk-Bos Krista K, Sinke Richard, Pasmooij Anna Maria G, Jonkman Marcel F

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27136972
DOI: 10.2340/00015555-2451

Genes

KRT5

Provenance

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Related research

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Research trail→

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In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.PMID 27136972Read ↗

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.Semantic proximity Read ↗

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.Semantic proximity Read ↗

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.Semantic proximity Read ↗

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.Semantic proximity Read ↗

Genetic lessons learned from pathogenic variants in KRT1.Semantic proximity Read ↗

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.Semantic proximity Read ↗

An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.Semantic proximity Read ↗

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.Semantic proximity Read ↗

The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

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